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from 7 - Genetics
Published online by Cambridge University Press: 08 November 2023
Advances in the systematic mapping of human genetic variation and high throughput genotyping facilitated the development of genome-wide association studies (GWAS), which typically assess common genetic variants (those present at >1% frequency in the population). Genotyping can be performed either by sequencing to determine each individual’s DNA sequence (see Subsection 7.3.2), or, much more cheaply and rapidly, using array-based technologies (DNA microarrays) to test genetic variation at specific predetermined locations across the genome. In GWAS, hundreds of thousands of single DNA base-pair changes (single-nucleotide polymorphisms (SNPs)) are genotyped throughout the genome using array-based technologies.
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